Abstract

FONSECA, Dora; SILVA, Claudia; MATEUS, Heidi  and  RESTREPO, Carlos M. Deletions identification in female carriers of Duchenne’s muscular distrophy. Acta Med Colomb [online]. 2008, vol.33, n.2, pp.63-67. ISSN 0120-2448.

Objectives: identification of carrier women in families affected with Duchenne’s and Becker’s Muscular Dystrophy (DMD/DMB) by means of Haplotypes building and the determination of loss of heterocygocity. Introduction: DMD/DMB is a recessive inherited disease linked to chromosome X and is presented with muscular weakness, progressive loss of motor skills and early death. These are caused by a mutation of the distrophyne gene that contains 79 axons. These are the results of two families with diagnosis of DMD/DMB, where a deletion of the distrophyne gene there had been previously observed. Extraction of the genomic DNA was performed followed by amplification of intragenic and extragenic10 STRs of the distrophyne gene, haplotypes were built for those affected as well as for the women by maternal line in the family groups. Results and conclusions: with the haplotypes and the confirmation of loss of heterocygocity we were able to identify the carrier’s status in family women of those affected with deletion. The utilization of this method is being discussed for the identification of carriers and its implications in genetic counseling.

Keywords : DNA; deletion; distrophyne; Duchenne’s muscular distrophy; Becker’s muscular distrophy; carrier’s detection.

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